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Genetic Mutations -CLIL, Appunti di Biologia

appunti sulle mutazioni genetiche in inglese

Tipologia: Appunti

2019/2020

Caricato il 20/04/2020

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WHAT ARE MUTATIONS?
A mutation, which may arise during replication and/or recombination,
is a permanent change in the nucleotide sequence of DNA. Damaged DNA
can be mutated either by substitution, deletion or insertion of base pairs.
Mutations, for the most part, are harmless except when they lead to cell
death or tumor formation. They can be NEUTRAL like silent mutations,
HARMFUL lor BENEFICIAL
CAUSES OF MUTATIONS:
1) SPONTANEUS MUTATIONS
they occur when mistakes are made during DNA replication or
transcription, in crossing over or by a wrong distribution of
chromosomes in the daughter cells during cellular division. They are
inevitable and casual with no outside influence
2) MUTAGEN/INDUCED MUTATIONS
They are caused by environmental factors. Anything in the
environment that can cause a mutation is known as a MUTAGEN
such as chemicals, radiation or retroviruses.
(smoke, UV radiation, Papillomavirus)
MUTUATIONS CAN OCCUR IN:
1) GERMLINE CELLS MUTATIONS
they occur in gametes. These mutations are espically significant
because they can be transmitted to offspring and every cell in the
offspring will have the mutations.
2) SOMATIC CELLS MUTATIONS:
occur in other cells of the body. These mutations generally have
negative consequences on the human organism but don’t get
transmitted offspring because they are confined to just one cell and
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WHAT ARE MUTATIONS?

A mutation, which may arise during replication and/or recombination, is a permanent change in the nucleotide sequence of DNA. Damaged DNA can be mutated either by substitution, deletion or insertion of base pairs. Mutations, for the most part, are harmless except when they lead to cell death or tumor formation. They can be NEUTRAL like silent mutations, HARMFUL lor BENEFICIAL CAUSES OF MUTATIONS:

  1. SPONTANEUS MUTATIONS  they occur when mistakes are made during DNA replication or transcription, in crossing over or by a wrong distribution of chromosomes in the daughter cells during cellular division. They are inevitable and casual with no outside influence
  2. MUTAGEN/INDUCED MUTATIONS They are caused by environmental factors. Anything in the environment that can cause a mutation is known as a MUTAGEN such as chemicals, radiation or retroviruses. (smoke, UV radiation, Papillomavirus) MUTUATIONS CAN OCCUR IN:
  3. GERMLINE CELLS MUTATIONS  they occur in gametes. These mutations are espically significant because they can be transmitted to offspring and every cell in the offspring will have the mutations.
  4. SOMATIC CELLS MUTATIONS:  occur in other cells of the body. These mutations generally have negative consequences on the human organism but don’t get transmitted offspring because they are confined to just one cell and

its daughter cell. ( Some tumoral forms such as skin or lung cancer are caused by this type of mutation)  BOTH MUTATIONS INFLUENCE THE PROCESS OF PROTEIN SYNTHESIS TYPES OF MUTUATIONS: 1) GENE/POINT MUTATIONS

 is a genetic mutation in which a single nucleotide base is

modified by SUBSTITUTION,INSERATION AND DELETION

inserted from a DNA or RNA sequence. It only affects small

portion of the DNA. Not always it affects the phenotype.

Es. SICKLE CELL ANEMIA

Substitution A SUBSTITUTION MUTATION occurs when one base pair is substituted for another. For example, this would occur when one nucleotide containing cytosine is accidentally substituted for one containing guanine. There are three types of substitution mutations:  Nonsense  Missense  Silent A NONSENSE MUTATION occurs when one nucleotide is substituted and this leads to the formation of a stop codon instead of a codon that codes for an amino acid. A stop codon a certain sequence of bases (TAG, TAA, or TGA in DNA, and UAG, UAA, or UGA in RNA) that stops the production of the amino acid chain.

This completely changes the amino acids that would be produced, which in turn changes the structure and function of the resulting protein and can render it useless. Similarly, if one base was deleted, the sequence would also shift. 2) CHROMOSOMAL MUTUATIONS  Chromosome structure mutations are alterations that affect whole chromosomes and whole genes rather than just individual nucleotides. These mutations result from errors in cell division that cause a section of a chromosome to break off, be duplicated or move onto another chromosome.  deletion is where a section of a chromosome is removed.  translocation is where a section of a chromosome is added to another chromosome that is not its homologous partner.  inversion is where a section of a chromosome is reversed.  duplication occurs when a section of a chromosome is added from its homologous partner. Chromosome mutations are often lethal as the chromosome structure is altered. EXAMPLE: DOWN SYNDROME